Stains & CD markers
ATDX (ATRX)
Copyright: 2003-2024, PathologyOutlines.com, Inc.
PubMed Search: ATRX[title]
ATDX (ATRX)
Author: Nat Pernick, M.D.
Last author update: 1 February 2014
Last staff update: 23 June 2021
Copyright: 2003-2024, PathologyOutlines.com, Inc.
PubMed Search: ATRX[title]
Table of Contents
Definition / general | Terminology | Clinical features | Uses by pathologists | Microscopic (histologic) imagesCite this page: Pernick N. ATDX (ATRX). PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/stainsatrx.html. Accessed July 15th, 2024.
Definition / general
- Alpha-Thalassemia/intellectual Disability syndrome X-linked
- Chromatin remodelling protein important in DNA replication, telomere stability, gene transcription, chromosome congression and cohesion during cell division (Epigenetics 2013;8:3)
- Member of SWI/SNF protein family of DNA dependent ATPases
- Is recruited to site of DNA damage; required for efficient checkpoint activation and faithful replication restart (J Biol Chem 2013;288:6342)
- Death domain-associated protein (Daxx) cooperates with ATRX
- Have essential roles in adenovirus gene expression; illustrates importance of early viral proteins to counteract cellular chromatin remodelling (Nucleic Acids Res 2013;41:3532)
- HSV also represses ATRX (J Virol 2012;86:10093)
Terminology
- Previously termed Alpha Thalassemia / Mental Retardation syndrome
Clinical features
- Associated with rare genetic disorder ATDX (ATRX) syndrome, which includes developmental delay, cognitive impairment, various skeletal deformities (PLoS One 2013;8:e85526, Nat Struct Mol Biol 2011;18:769, J Hum Genet 2012;57:73, Eur J Hum Genet 2011;19:717)
- Acquired α-thalassemia myelodysplastic syndrome (ATMDS): rare acquired syndrome characterized by somatic point mutation in ATRX gene in patients with chronic myeloid disorders (Hemoglobin 2012;36:581)
- CNS: loss of ATRX expression in 45% of anaplastic astrocytomas, 27% of anaplastic oligoastrocytomas, 10% of anaplastic oligodendrogliomas (Acta Neuropathol 2013;126:443)
- Occurs in pediatric and adult high grade astrocytoma (Mod Pathol 2013;26:1425)
- Alternative Lengthening of Telomeres (ALT) is a non-telomerase mechanism of telomere lengthening that occurs in ~10% of cancers overall and is particularly common in astrocytic brain tumors; ATRX may be a repressor of ALT (PLoS One 2012;7:e50062, Oncotarget 2012;3:1194)
- Genetic signatures, including ATRX, may refine classification of gliomas (Oncotarget 2012;3:709)
- Pancreas: loss of ATRX is associated with chromosomal instability in pancreatic endocrine tumors and shorter survival (Gastroenterology 2014;146:453, Horm Cancer 2013;4:165, Mod Pathol 2012;25:1033, Science 2011;333:425)
Uses by pathologists
- See clinical features above
Microscopic (histologic) images
Images hosted on other servers:
Neuroblastoma
Pancreas: ALT+ tumors
Pancreas: MEN1
microadenoma and
pancreatic neuroendocrine
tumor
